ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.1188dup (p.Asn397Ter)

gnomAD frequency: 0.00001  dbSNP: rs1603342313
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001010225 SCV001170388 pathogenic Hereditary cancer-predisposing syndrome 2022-03-21 criteria provided, single submitter clinical testing The c.1188dupT pathogenic mutation, located in coding exon 8 of the BRIP1 gene, results from a duplication of T at nucleotide position 1188, causing a translational frameshift with a predicted alternate stop codon (p.N397*). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
AiLife Diagnostics, AiLife Diagnostics RCV002223965 SCV002502906 likely pathogenic not provided 2022-03-08 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV003336228 SCV004044524 pathogenic Familial cancer of breast 2023-06-01 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.
Baylor Genetics RCV003336228 SCV004211313 likely pathogenic Familial cancer of breast 2023-01-04 criteria provided, single submitter clinical testing

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